Meccanismi molecolari e caratterizzazione di varianti alla base di carenze della coagulazione

The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms. Sacco M, Lancellotti S, Branchini A, Tardugno M, Testa MF, Lunghi B, Bernardi F, Pinotti M, Giusti B, Castaman G, De Cristofaro R.

J Thromb Haemost. 2022 Aug;20(8):1818-1829.

doi: 10.1111/jth.15765.

The carboxyl-terminal region of coagulation serine proteases: A matter of cut and change. Branchini A.

J Thromb Haemost. 2021 Apr;19(4):917-919.

doi: 10.1111/jth.15237.

A recoded view on the F9 p.Cys178Ter pathogenic mechanism. Branchini A, Pinotti M.

Thromb Res. 2020 Mar;187:88-90.

doi: 10.1016/j.thromres.2020.01.016.

Spostare articolo “The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII” presente nella sezione “Fattori della coagulazione, apolipoproteine e rischio cardiovascolare” a questa nuova sezione.

The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation. Pignani S, Todaro A, Ferrarese M, Marchi S, Lombardi S, Balestra D, Pinton P, Bernardi F, Pinotti M, Branchini A.

J Thromb Haemost. 2018 Oct;16(10):2035-2043.

doi: 10.1111/jth.14236.

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity. Donadon I, McVey JH, Garagiola I, Branchini A, Mortarino M, Peyvandi F, Bernardi F, Pinotti M.

Haematologica. 2018 Feb;103(2):344-350.

doi: 10.3324/haematol.2017.178327.

The carboxyl-terminal region is NOT essential for secreted and functional levels of coagulation factor X. Branchini A, Baroni M, Burini F, Puzzo F, Nicolosi F, Mari R, Gemmati D, Bernardi F, Pinotti M.

J Thromb Haemost. 2015 Aug;13(8):1468-74.

doi: 10.1111/jth.13034.

Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation. Baroni M, Pavani G, Pinotti M, Branchini A, Bernardi F, Camire RM.

Biochim Biophys Acta. 2015 Oct;1854(10 Pt A):1351-6.

doi: 10.1016/j.bbapap.2015.05.012.

Coagulation factor VII variants resistant to inhibitory antibodies. Branchini A, Baroni M, Pfeiffer C, Batorova A, Giansily-Blaizot M, Schved JF, Mariani G, Bernardi F, Pinotti M.

Thromb Haemost. 2014 Nov;112(5):972-80.

doi: 10.1160/TH14-03-0198.

Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity. Branchini A, Campioni M, Mazzucconi MG, Biondo F, Mari R, Bicocchi MP, Bernardi F, Pinotti M.

FEBS Lett. 2013 Oct 1;587(19):3249-53.

doi: 10.1016/j.febslet.2013.08.019.

Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency. Branchini A, Rizzotto L, Mariani G, Napolitano M, Lapecorella M, Giansily-Blaizot M, Mari R, Canella A, Pinotti M, Bernardi F.

Haematologica. 2012 May;97(5):705-9.

doi: 10.3324/haematol.2011.049403.

Characterization of the intracellular signalling capacity of natural FXa mutants with reduced pro-coagulant activity. Monti M, Borensztajn KS, Pinotti M, Canella A, Branchini A, Marchetti G, Reitsma PH, Bernardi F, Spek CA.

Thromb Res. 2009 Apr;123(6):914-8.

doi: 10.1016/j.thromres.2008.10.012.